IFRD1 gene related symptoms and diseases
All the information presented here about the IFRD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IFRD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Peripheral axonal neuropathy | Very Common - Between 80% and 100% cases |
| Titubation | Very Common - Between 80% and 100% cases |
| Head tremor | Very Common - Between 80% and 100% cases |
| Muscle fibrillation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IFRD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lower limb hyperreflexia
- Sensorimotor neuropathy
- Sensory impairment
- Dysmetria
- Nystagmus
- Gait ataxia
- Pes cavus
- Areflexia
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IFRD1 gene
Here you will find a list of rare diseases related to the IFRD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 18
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18
Description
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 18
- Hearing impairment
- Nystagmus
- Muscle weakness
- Dysarthria
- Skeletal muscle atrophy
More info about SPINOCEREBELLAR ATAXIA TYPE 18
SOURCES: ORPHANET
Search interest in IFRD1
Potential gene panels for IFRD1 gene
IFRD1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IFRD1 gene.
More info about this panel Spain.
Spinocerebellar ataxia 18 (SCA18, frequent mutations on IFRD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IFRD1 gene.
More info about this panel Portugal.
IFRD1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the IFRD1 gene.
More info about this panel Germany.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Spinocerebellar ataxia type 18 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IFRD1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Spinocerebellar ataxia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panel Spain.
Ataxia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panel Spain.
IFRD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IFRD1 gene.
More info about this panel United States.
Spinocerebellar ataxia type 18 Panel
Spain.
By Bioarray
This panel specifically test the IFRD1 gene.
More info about this panel Spain.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
Spinocerebellar ataxia panel Panel
Canada.
By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56
More info about this panel Canada.
Spinocerebellar Ataxia Type 18 , Sequencing IFRD1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IFRD1 gene.
More info about this panel Spain.
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